Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29977426T>G , CM000668.2:g.29977426T>G | GRCh38 |
| NC_000006.11:g.29945203T>G , CM000668.1:g.29945203T>G | GRCh37 |
| NC_000006.10:g.30053182T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688495.1:n.361-31A>C (POLR1HASP) | ||
| NR_028032.1:n.404-228T>G (HCG9) |